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Results: 1 to 20 of 57

Tests names and labsConditionsGenes, analytes, and microbesMethods

AKR1D1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SCID Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
6550
  • C Sequence analysis of the entire coding region

CIITA Gene Bare lymphocyte syndrome, type 2, complementation group A NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

Tempus xT

Tempus Labs, Inc.
United States
2647
  • I Microsatellite instability testing (MSI)
  • C Sequence analysis of the entire coding region

FoundationOne® Heme

Foundation Medicine, Inc.
United States
2405
  • D Deletion/duplication analysis
  • R RNA analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

CIITA - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoImmuno Panel

Centogene AG - the Rare Disease Company
Germany
323329
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Inborn Errors of Immunity and Cytopenias Panel

Invitae
United States
755562
  • D Deletion/duplication analysis

Hematologic Cancer Fusion Analysis

Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital
United States
1147
  • R RNA analysis

Hematological Malignancy Fusion Panel

Laboratory for Molecular Pediatric Pathology Boston Children's Hospital
United States
871
  • R RNA analysis

Bare lymphocyte syndrome, type II, complementation group A, 209920, Autosomal recessive (Immunodeficiency by defective expression of HLA class 2) (CIITA gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Bare lymphocyte syndrome, type II, complementation group A, 209920, Autosomal recessive (Immunodeficiency by defective expression of HLA class 2) (CIITA gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Rheumatoid arthritis, susceptibility to, 180300 (CIITA gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen

Invitae
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel

Invitae
United States
177130
  • D Deletion/duplication analysis

Invitae Primary Immunodeficiency Panel

Invitae
United States
552424
  • D Deletion/duplication analysis

Immune Disorders Panel

CGC Genetics Unilabs
Portugal
1385
  • C Sequence analysis of the entire coding region

Hereditary MHC class II deficiency, complementation group A (sequence analysis of CIITA gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Neonatal Baby Cheek Screening Test

Mendelics
Brazil
1342
  • C Sequence analysis of the entire coding region

Targeted Variant Analysis

Integrated Genetics Westborough LabCorp
United States
330746
  • T Targeted variant analysis

Results: 1 to 20 of 57

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.